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rs80357391

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357391(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093514
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357391
dbSNP (old)rs80357391
ClinGenrs80357391
ebirs80357391
HLIrs80357391
Exacrs80357391
Gnomadrs80357391
Varsomers80357391
Maprs80357391
PheGenIrs80357391
Biobankrs80357391
1000 genomesrs80357391
hgdprs80357391
ensemblrs80357391
gopubmedrs80357391
geneviewrs80357391
scholarrs80357391
googlers80357391
pharmgkbrs80357391
gwascentralrs80357391
openSNPrs80357391
23andMers80357391
23andMe allrs80357391
SNP Nexus

SNPshotrs80357391
SNPdbers80357391
MSV3drs80357391
GWAS Ctlgrs80357391
Max Magnitude6
rs80357391, also known as E673X, c.2017G>T and p.Glu673Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357391(T;T)
Alt rs80357391(T;T)
Reference Rs80357391(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41245531C>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000047683.4, RCV000111751.3, RCV000131903.3, RCV000212166.1,